Argininosuccinic aciduria – also known as argininosuccinase deficiency and argininocuccinate lyase deficiency (ALD) – is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia is toxic if the levels become too high. Excess ammonia in the body can significantly affect the nervous system and cause brain damage.
Argininosuccinic aciduria usually becomes evident in the first few days of life and affects approximately 1 in 70,000 newborns. Symptoms of argininosuccinic aciduria include:
- Lethargy
- Loss of appetite
- Erratic breathing
- Poorly controlled body temperature
- Seizures
- Coma
- Hepatomegaly
- Hypotonia
- Apnea
If argininosuccinic aciduria is not treated right away it may cause:
- Delays in physical developmental
- Intellectual disability
- Ataxia
- Liver damage
- Skin lesions
- Brittle hair
Treatment of argininosuccinic aciduria may include a high-calorie, protein-restrictive diet, arginine supplementation, administration of sodium benzoate and sodium phenylacetate. Dialysis may be necessary for some with the disease.
For more information on argininosuccinic aciduria please contact St. Louis Children’s Hospital at 314.454.5437 or 800.678.5437 or email us.
